MUTYH-3 G272E [nucleoplasm]

Stable Identifier
R-HSA-9606311
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MUTYH-3 Gly272Glu, MUTYH alpha-3 Gly382Asp, MUTYH alpha-3 Gly272Glu
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
18422726 Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis

Ushijima, Y, Iida, M, Esaki, M, Matsumoto, T, Hirahashi, M, Yanaru-Fujisawa, R, Yao, T, Nakabeppu, Y, Gushima, M

Clin. Genet. 2008
External Reference Information
External Reference
Gene Names
MUTYH, MYH
Participates
Other forms of this molecule
Modified Residues
Name
glycine 272 replaced with L-glutamic acid
Coordinate
272
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
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